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How Klinefelter and Kartagener Syndromes Cause Male Infertility

July 31, 2014

Not all male factor infertility is caused by environmental factors, poor diet, or lack of exercise. Some conditions, like Klinefelter Syndrome or Kartagener Syndrome are more deeply rooted and cause errors in sperm production. The first step in diagnosing male factor infertility, of course, is a semen analysis. However, if you are not finding a concrete source of male infertility and are not getting pregnant, it may be time for further investigation.

A man with Klinefelter Syndrome has an extra copy of the X chromosome (XXY), rather than the typical 46 chromosome XY pattern. As a result, he will have lower levels of testosterone, small testes, and possible breast development. He is very likely to suffer infertility due to low or non-existent sperm count.

Pasquale Patrizio, M.D., Director of the Yale Fertility Program at Yale University, says that while males with Klinefelter Syndrome have no sperm in their ejaculate, those with mosaicism may have some cells with the normal karyotype in their testicular tissue. “Depending on the percent of mosaicism, some males can make sperm and have babies. Sometimes we can find sperm in a testicular biopsy,” he says. Out of the 1 in every 1,000 males affected with Klinefelter Syndrome, about 20% will have viable sperm in their testicular tissue.

Another cause of significant male factor infertility, Kartagener Syndrome, is a genetic condition that inhibits sperm motility. “The genes responsible for creating the tail of the sperm and helping them move have a deficit,” Patrizio explains. Therefore, sperm are unable to swim. Interestingly, the protein in the tail of the sperm is the same as is found in the cilia of the lungs. The 1 in every 20,000 men diagnosed with Kartagener Syndrome often have chronic bronchitis or sinusitis because the cilia are unable to keep the lungs clean.

Dr. Patrizio assures patients with male factor infertility that both of these conditions can be treated with advanced reproductive technologies. “The treatment for both cases would be IVF with ICSI (in vitro fertilization with intracytoplasmic sperm injection).” Those with Klinefelter Syndrome may undergo testicular biopsy via Testicular Sperm Aspiration (TESA) to retrieve sperm for this process. Kartagener Syndrome does not require a testicular biopsy, though ICSI eliminates the need for strong swimming sperm.


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